ClinVar Miner

Submissions for variant NM_022047.4(DEF6):c.991G>A (p.Glu331Lys)

gnomAD frequency: 0.00027  dbSNP: rs541285645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002032711 SCV002173162 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 331 of the DEF6 protein (p.Glu331Lys). This variant is present in population databases (rs541285645, gnomAD 0.2%). This missense change has been observed in individual(s) with DEF6 deficiency (PMID: 31308374). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1300254). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects DEF6 function (PMID: 31308374). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV001731257 SCV001981701 pathogenic Immunodeficiency 87 and autoimmunity 2021-10-21 no assertion criteria provided literature only

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